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    CRTC1 CREB regulated transcription coactivator 1 [ Homo sapiens (human) ]

    Gene ID: 23373, updated on 5-Mar-2024

    Summary

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    Official Symbol
    CRTC1provided by HGNC
    Official Full Name
    CREB regulated transcription coactivator 1provided by HGNC
    Primary source
    HGNC:HGNC:16062
    See related
    Ensembl:ENSG00000105662 MIM:607536; AllianceGenome:HGNC:16062
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MAML2; MECT1; Mam-2; TORC1; TORC-1; WAMTP1
    Summary
    Enables cAMP response element binding protein binding activity. Involved in positive regulation of transcription by RNA polymerase II. Located in cytosol; nuclear body; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in brain (RPKM 4.7), testis (RPKM 2.0) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    19p13.11
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (18683680..18782333)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (18818780..18917929)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (18794490..18893143)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10412 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10413 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10414 Neighboring gene Sharpr-MPRA regulatory region 5939 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18748277-18748791 Neighboring gene RNA, 7SL, cytoplasmic 155, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18758904-18759714 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18759715-18760525 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18762196-18762783 Neighboring gene kelch like family member 26 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18768110-18768641 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18768642-18769172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18771679-18772215 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18783189-18783923 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14330 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10416 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18806569-18807467 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18810877-18811723 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14331 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18820620-18821614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18859933-18860916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18878537-18879414 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18879415-18880291 Neighboring gene Sharpr-MPRA regulatory region 9725 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10417 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18900694-18901273 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18901274-18901854 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18901855-18902433 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18905989-18906518 Neighboring gene Sharpr-MPRA regulatory region 2922 Neighboring gene cartilage oligomeric matrix protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10418 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10419 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10420 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10421 Neighboring gene NANOG hESC enhancer GRCh37_chr19:18944963-18945515 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14332 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14333 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:18960435-18960659 Neighboring gene UPF1 RNA helicase and ATPase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10422

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Oncogenic RAS commandeers amino acid sensing machinery to aberrantly activate mTORC1 in multiple myeloma. Yang Y, et al. Nat Commun, 2022 Sep 17. PMID 36115844, Free PMC Article
    2. TORC1 selectively regulates synaptic maturation and input convergence in the developing visual system. Gobert D, et al. Dev Neurobiol, 2020 Sep. PMID 32996262
    3. Psychotropic drug-induced genetic-epigenetic modulation of CRTC1 gene is associated with early weight gain in a prospective study of psychiatric patients. Delacrétaz A, et al. Clin Epigenetics, 2019 Dec 26. PMID 31878957, Free PMC Article
    4. (Epi)genetic regulation of CRTC1 in human eating behaviour and fat distribution. Rohde K, et al. EBioMedicine, 2019 Jun. PMID 31153815, Free PMC Article
    5. CRTC1 gene is differentially methylated in the human hippocampus in Alzheimer's disease. Mendioroz M, et al. Alzheimers Res Ther, 2016 Apr 19. PMID 27094739, Free PMC Article

    See all (116) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Establishment of Mucoepidermoid Carcinoma Cell Lines from Surgical and Recurrence Biopsy Specimens.
      Title: Establishment of Mucoepidermoid Carcinoma Cell Lines from Surgical and Recurrence Biopsy Specimens.
    2. Cutaneous Melanocytic Tumor With CRTC1::TRIM11 Translocation : An Emerging Entity Analyzed in a Series of 41 Cases.
      Title: Cutaneous Melanocytic Tumor With CRTC1::TRIM11 Translocation : An Emerging Entity Analyzed in a Series of 41 Cases.
    3. Oncogenic RAS commandeers amino acid sensing machinery to aberrantly activate mTORC1 in multiple myeloma.
      Title: Oncogenic RAS commandeers amino acid sensing machinery to aberrantly activate mTORC1 in multiple myeloma.
    4. Salivary mucoepidermoid carcinoma: histological variants, grading systems, CRTC1/3-MAML2 fusions, and clinicopathological features.
      Title: Salivary mucoepidermoid carcinoma: histological variants, grading systems, CRTC1/3-MAML2 fusions, and clinicopathological features.
    5. Targeting Notch and EGFR signaling in human mucoepidermoid carcinoma.
      Title: Targeting Notch and EGFR signaling in human mucoepidermoid carcinoma.
    6. The CRTC1-MAML2 fusion is the major oncogenic driver in mucoepidermoid carcinoma.
      Title: The CRTC1-MAML2 fusion is the major oncogenic driver in mucoepidermoid carcinoma.
    7. TORC1 selectively regulates synaptic maturation and input convergence in the developing visual system.
      Title: TORC1 selectively regulates synaptic maturation and input convergence in the developing visual system.
    8. Mycobacterium tuberculosis Rv3034c regulates mTORC1 and PPAR-gamma dependant pexophagy mechanism to control redox levels in macrophages.
      Title: Mycobacterium tuberculosis Rv3034c regulates mTORC1 and PPAR-Îł dependant pexophagy mechanism to control redox levels in macrophages.
    9. Mislocalization of TORC1 to Lysosomes Caused by KIF11 Inhibition Leads to Aberrant TORC1 Activity.
      Title: Mislocalization of TORC1 to Lysosomes Caused by KIF11 Inhibition Leads to Aberrant TORC1 Activity.
    10. Structural Insights into the Interaction Between CRTCs and 14-3-3.
      Title: Structural Insights into the Interaction Between CRTCs and 14-3-3.
    Submit: New GeneRIF Correction See all GeneRIFs (78)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.
    EBI GWAS Catalog
    Meta-analysis identifies loci affecting levels of the potential osteoarthritis biomarkers sCOMP and uCTX-II with genome wide significance.
    EBI GWAS Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    EBI GWAS Catalog
    Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ14027, KIAA0616

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cAMP response element binding protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cAMP response element binding protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in energy homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in entrainment of circadian clock by photoperiod ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in memory IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of membrane hyperpolarization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of CREB transcription factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of CREB transcription factor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein homotetramerization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in rhythmic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    CREB-regulated transcription coactivator 1
    Names
    Mastermind-like protein 2
    mucoepidermoid carcinoma translocated protein 1
    transducer of regulated cAMP response element-binding protein (CREB) 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001098482.2 → NP_001091952.1  CREB-regulated transcription coactivator 1 isoform 3

      See identical proteins and their annotated locations for NP_001091952.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) includes an alternate exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (3) is longer than isoform 1.
      Source sequence(s)
      AB014516, AU118537, BC023614, BM680095, DB355148
      Consensus CDS
      CCDS42525.1
      UniProtKB/TrEMBL
      M0QX46
      Related
      ENSP00000345001.5, ENST00000338797.10
      Conserved Domains (3) summary
      pfam12884
      Location:6 → 66
      TORC_N; Transducer of regulated CREB activity, N terminus
      pfam12885
      Location:164 → 309
      TORC_M; Transducer of regulated CREB activity middle domain
      pfam12886
      Location:575 → 650
      TORC_C; Transducer of regulated CREB activity, C terminus

    2. NM_015321.3 → NP_056136.2  CREB-regulated transcription coactivator 1 isoform 1

      See identical proteins and their annotated locations for NP_056136.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (1).
      Source sequence(s)
      AB014516, AU118537, BC023614, BC028050, BM680095, DB355148
      Consensus CDS
      CCDS32963.1
      UniProtKB/Swiss-Prot
      A6NMG5, O75114, Q6UUV9, Q6Y3A3, Q7LDZ2, Q8IUL3, Q8IZ34, Q8IZL1, Q8N6W3, Q96AI8, Q9H801
      UniProtKB/TrEMBL
      M0QX46
      Related
      ENSP00000323332.7, ENST00000321949.13
      Conserved Domains (3) summary
      pfam12884
      Location:6 → 66
      TORC_N; Transducer of regulated CREB activity, N terminus
      pfam12885
      Location:148 → 293
      TORC_M; Transducer of regulated CREB activity middle domain
      pfam12886
      Location:559 → 634
      TORC_C; Transducer of regulated CREB activity, C terminus

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      18683680..18782333
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      18818780..18917929
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_025021.1: Suppressed sequence

      Description
      NM_025021.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UUV9.2 GenPept UniProtKB/Swiss-Prot:Q6UUV9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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